LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

Détails

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ID Serval
serval:BIB_A3D193A7D6F3
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Production externe
Titre
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
Périodique
Cell
Auteur⸱e⸱s
Gong Y., Slee R.B., Fukai N., Rawadi G., Roman-Roman S., Reginato A.M., Wang H., Cundy T., Glorieux F.H., Lev D., Zacharin M., Oexle K., Marcelino J., Suwairi W., Heeger S., Sabatakos G., Apte S., Adkins W.N., Allgrove J., Arslan-Kirchner M., Batch J.A., Beighton P., Black G.C., Boles R.G., Boon L.M., Borrone C., Brunner H.G., Carle G.F., Dallapiccola B., De Paepe A., Floege B., Halfhide M.L., Hall B., Hennekam R.C., Hirose T., Jans A., Jüppner H., Kim C.A., Keppler-Noreuil K., Kohlschuetter A., LaCombe D., Lambert M., Lemyre E., Letteboer T., Peltonen L., Ramesar R.S., Romanengo M., Somer H., Steichen-Gersdorf E., Steinmann B., Sullivan B., Superti-Furga A., Swoboda W., van den Boogaard M.J., Van Hul W., Vikkula M., Votruba M., Zabel B., Garcia T., Baron R., Olsen B.R., Warman M.L.
Collaborateur⸱rice⸱s
Osteoporosis-Pseudoglioma Syndrome Collaborative Group
ISSN
0092-8674 (Print)
ISSN-L
0092-8674
Statut éditorial
Publié
Date de publication
2001
Volume
107
Numéro
4
Pages
513-523
Langue
anglais
Résumé
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth. Mutations in LRP5 cause the autosomal recessive disorder osteoporosis-pseudoglioma syndrome (OPPG). We find that OPPG carriers have reduced bone mass when compared to age- and gender-matched controls. We demonstrate LRP5 expression by osteoblasts in situ and show that LRP5 can transduce Wnt signaling in vitro via the canonical pathway. We further show that a mutant-secreted form of LRP5 can reduce bone thickness in mouse calvarial explant cultures. These data indicate that Wnt-mediated signaling via LRP5 affects bone accrual during growth and is important for the establishment of peak bone mass.
Mots-clé
Adaptor Proteins, Signal Transducing, Adult, Animals, Animals, Outbred Strains, Bone Density/genetics, Bone Morphogenetic Protein 2, Bone Morphogenetic Proteins/pharmacology, COS Cells, Cercopithecus aethiops, Child, Child, Preschool, Chromosomes, Human, Pair 11/genetics, Culture Media, Conditioned/pharmacology, DNA, Complementary/genetics, Eye/embryology, Eye Abnormalities/genetics, Female, Genes, Recessive, Heterozygote, Humans, LDL-Receptor Related Proteins, Male, Mesoderm/cytology, Mice, Mice, Inbred C57BL, Organ Culture Techniques, Osteoblasts/metabolism, Osteoporosis/genetics, Phosphoproteins/genetics, Phosphoproteins/physiology, Proteins/genetics, Proteins/physiology, Proto-Oncogene Proteins/genetics, Proto-Oncogene Proteins/physiology, Receptors, LDL/deficiency, Receptors, LDL/genetics, Recombinant Fusion Proteins/physiology, Recombinant Proteins, Signal Transduction, Skull/cytology, Species Specificity, Stromal Cells/cytology, Stromal Cells/drug effects, Syndrome, Transfection, Transforming Growth Factor beta, Wnt Proteins, Wnt2 Protein, Zebrafish Proteins
Pubmed
11719191
Web of science
000172272900011
Création de la notice
14/03/2011 17:08
Dernière modification de la notice
20/08/2019 16:09
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